scholarly journals Genetic diagnosis for X‐linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation

2018 ◽  
Vol 32 (9) ◽  
Author(s):  
Xin Ma ◽  
Xue Lv ◽  
Hong‐yan Liu ◽  
Xing Wu ◽  
Li Wang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Genetic Diagnosis ◽  
Hypohidrotic Ectodermal Dysplasia

X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation

2017 ◽  
Vol 152 (3) ◽  
pp. 111-116 ◽  
Author(s):  
Salvatore Savasta ◽  
Giorgia Carlone ◽  
Riccardo Castagnoli ◽  
Francesca Chiappe ◽  
Francesco Bassanese ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Novel Mutation ◽  
Nucleotide Position ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Nasal Bridge ◽  
Mutation Database ◽  
Exon 1 ◽  
Male Karyotype ◽  
Eda Gene

We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

2011 ◽  
Vol 102 (9) ◽  
pp. 722-725
Author(s):  
J. Cañueto ◽  
M.I. Zafra-Cobo ◽  
S. Ciria ◽  
P. Unamuno ◽  
R. González-Sarmiento
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Spanish Family ◽  
Eda Gene

A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia

2011 ◽  
Vol 102 (9) ◽  
pp. 722-725 ◽  
Author(s):  
J. Cañueto ◽  
M.I. Zafra-Cobo ◽  
S. Ciria ◽  
P. Unamuno ◽  
R. González-Sarmiento
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Spanish Family ◽  
Eda Gene

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID)

2010 ◽  
Vol 169 (11) ◽  
pp. 1403-1407 ◽  
Author(s):  
Catherine M. L. Roberts ◽  
Janet E. Angus ◽  
Ian H. Leach ◽  
Elizabeth M. McDermott ◽  
David A. Walker ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

2011 ◽  
Vol 166 (3) ◽  
pp. 678-681 ◽  
Author(s):  
C. Cluzeau ◽  
S. Hadj-Rabia ◽  
E. Bal ◽  
F. Clauss ◽  
A. Munnich ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Eda Gene

A new EDA gene mutation in a family of X-linked hypohidrotic ectodermal dysplasia

2014 ◽  
Vol 74 (2) ◽  
pp. 175-177 ◽  
Author(s):  
Masafumi Ohashi ◽  
Chie Moriya ◽  
Kana Tanahashi ◽  
Hajime Nakano ◽  
Daisuke Sawamura ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Eda Gene

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation

scholarly journals One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia

2014 ◽  
Vol 26 (1) ◽  
pp. 111 ◽  
Author(s):  
Jing Wang ◽  
Wei-Wei Ha ◽  
Wen Wang ◽  
Hua-Yang Tang ◽  
Xian-Fa Tang ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Chinese Han
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